Article
Correlation analysis of phenotype and genotype of GJB2 in patients with non-syndromic hearing loss in China.
Gene - 10 Oct 2015
Dai Zhi-Yao, Sun Bao-Chun, Huang Sha-Sha, Yuan Yong-Yi, Zhu Yu-Hua, Su Yu, Dai Pu
Abstract excerpt
BACKGROUND: Disease-associated mutations in GJB2 gene are one of the major reasons that can cause non-syndromic sensorineural hearing loss (NSHL). GJB2 gene deafness has various clinical phenotypes. This study aims to analyze characteristics and relationships of clinical phenotypes through analyzing 1481 NSHL cases and 190 GJB2 deafness patients (with dual gene mutations). PATIENTS AND METHODS: All the patients...
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